Monday, March 29, 2010

A long overdue update…

It has been a crazy busy past few weeks. I am behind in lots of areas of our life including updating our blog. I can’t seen to find the time to complete a thought much less write one down, but here goes…

Spring has finally arrived and with that comes the desire to want to stay and play outside! This is the time of year when you feel soooooo guilty for doing anything indoors that your indoor responsibilities get put off for rainy days, if you can afford to put them off. I guess you could say that I am “in debt” to my household responsibilities. All of the kiddos are enjoying the warmer temperatures and longer days, even Lucy. We are faced with the challenge of having a “mobile” toddler this year. Lucy uses her walker outside since it is not easy for her to motor plan how she is going to get from point A to point B. She really relies on her walker for stability and support as her balance and stability are…um….how should I put this…like watching someone leave the bar at at 2 am. In medical terms she has ataxia, lack of motor coordination, in addition to her being hypotonic, low muscle tone. Oh yeah, I unknowingly hold my breath when she is tooling around. At the end of the day it’s no wonder that my shoulders feel like they are above my earlobes.

March is birthday season in our home, it begins with Lucy, three days later mine, eleven days later is Drew, and we conclude on April 7th with Megan’s. We then have a lull until August when we will celebrate Sophie’s much anticipated fifth birthday! Whew, that gives us all some time to crave birthday cake again. We celebrated Lucy’s birthday with many of our friends who have helped us survive Lucy’s first two years. My birthday was more of a celebration for the kids, we did go out for dinner with some close friends. As for Drew’s birthday, I surprised him by arranging a date night, Alicia and Paul watched the kids for us. What would we do without Alicia and Paul? We went out to dinner just the two of us, and then came home and had cake with everyone.

It wouldn’t be an update without an appointment update, so here goes…Lucy had her two year baby “well check” a few weeks ago. Lucy has her issues that are being addressed by many of her multiple specialists, regardless our pediatrician listens to me describe them and then gives me her input. Very often she provides a point of view that I haven’t thought of or validates what I have been thinking all along. I discussed with her Lucy’s lower than normal tone, erratic heart rates, continued sleep issues, and GI concerns. We have noticed that Lucy’s tone is what has changed since being sick in February. She is more ataxic than usual and she is toe walking when she is not wearing her AFO’s. Lucy’s hips are loose, which we believe could be a reason for the toe walking, she is using different muscles to overcompensate for her weak hips. We concluded that Lucy needs to see orthopedics to ensure we are not overlooking a more serious issue. I have been asked on many occasions about vaccines for Lucy. We do vaccinate Lucy, but one vaccine at a time so as not to overstress her body. Lucy’s body reacts to vaccines with fever, fatigue, and irritability. This time she had all three reactions, but she didn’t seem as bothered by them as she has in the past, or maybe we are just so used to her symptoms that it is just par for the course. Also during this appointment I completed a questioner that pre-screens for Autism. In September Lucy did not pass; however, this time she passed! Lucy has changed so much in last year, even more so in the last three months especially when it comes to her social development. In addition to this appointment and her GI appointment we had earlier in the month, Lucy had her annual ophthalmology check which looked closely at her optic nerve. Good news,all looked well…ha, ha!

April comes with it’s appointments too: GI nutrition, metabolism and genetics, and neurology. Drew and I have our concerns for Lucy and we need to follow up with Dr. R about his conversation with Dr S. We will discuss doing a sleep study with neurology, hope for a weight gain so that we can have a smooth appointment with GI, and with metabolism and genetics I honestly don’t know what will come of that appointment. I heard through the mito grapevine that there is a swab test for mitochondrial genetics that is being done by a CHOP lab but not a CHOP doctor, I hoping to learn more about this, but I won’t hold breath.

In the past month I have had the opportunity to attend several meetings for families that have kids with “special needs”. With any change in life, seeking others who can relate to what you are experiencing is a great way to feel like you are accepted, and or “normal”. Just hearing others talk about their experiences and vice a versa is therapeutic. Almost always these meetings are with a group of moms, which is wonderful for me as a mom but doesn’t include Drew or the kids. We had a unique opportunity as a whole family to attend a support group for families who are affected by someone with a chronic disease. It was the first time that I think that Drew and I shared our story together with other families who could relate to the many emotions of having a child like Lucy and raising a family at the same time.

Life is busy, but we are determined to stop and smell the roses! This week our kiddos have spring break, we are hoping that the weather will return to more spring like temps so that we can go outside again and enjoy.

I am so behind in updating that I can’t fit into one post all the thoughts swirling in my mind, I will save some for another post.

1 comment:

YAY Lucy on passing the autism questionaire! and a great eye check-up too, what a relief.

Sorry to hear about Lucys ataxia. I also have it, started a year ago. I manage OK, its mild, somedays are worse than others. (not walking like a drunken sailor today!)

As for the hips, Jack also has trouble with loose joints. His trunk is his weakest, always have been. But this past year weve noticed his left foot turning in and he's started to trip more. We took him in for a full eval with a PT and Physiatrist. He had his hips xrayed and all looked good. Theyre telling us his left hip rotates as he walks. Giving him an awkward stiff gait. Somedays he walks like a little old man. They didnt offer any solution since this is such a tough problem to treat. Only strengthening those muscles might help correct it some. Sadly he just gets worse in this area. I asked about an ortho appt but everyone tells me he doesnt need one. I hope your appt gives you some answers. Reading your posts about Lucy reminds me so much of what we went through with Jack at that age, so many appts and so many questions. Know your family is always in my prayers. Love the new meeting for special needs families, sounds therapuetic.HUGS to your darling girl-Heidi & Jack.{hope your spring break weather is nice, our break is next week and its been pouring for days here! gloomy, wet, yuk, YAY kids!}

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In loving memory of Lucy Grace Marlett, the bravest five-year-old girl we know. Please help us to find a cure for Mitochondrial Disease by clicking on the image and donating to the "For the Love of Lucy Research Fund" established by her family and the UMDF. Thank you for your love and support!

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UNITED MITOCHONDRIAL DISEASE FOUNDATION

We are All the Marletts, a family of six trying to live life to its fullest! My husband and I fell in love at a young age and dreamed of being married, having a family, and growing old together… Even though our life is what we hoped it would be, we could never have imagined what GOD had in store for us along the way. Being parents to four remarkable kiddos has proven to be MORE in every way! When our youngest was born, although we didn’t know it right away, we were given the privilege and challenge of raising a “special child”, a medically complex child. Since starting this blog, Lucy has been diagnosed with Mitochondrial Disease, a progressive degenerative disease of energy metabolism. Even though this is a blog about our life as a family, I write often about Lucy’s medical issues. If you care to read about the trials and tribulations of raising four children, the joys and hardships of our family life, the emotional roller coaster ride that raising a medically complex child puts one on, and the love that pours from my heart onto the pages of this blog then…welcome!